[DNA-based prenatal diagnosis in epidermolysis bullosa].
Authors report a prenatal diagnosis in a family of Herlitz junctional epidermolysis bullosa with risk of recurrence. The diagnosis in the family was established in the case of the affected older brother using electron microscopy and immunofluorescence microscopy. The underlying mutation was also detected in the gene LAMB3. The affected older brother was homozygous, the parents and one of the siblings proved to be heterozygous carriers for the mutation and the other sibling was genotypically normal. The chorionic villous sample biopsy was carried out in the 11, week of pregnancy in order to extract fetal desoxyribonucleic acid. The previously detected mutation generates new restriction enzyme site, which was tested after the polymerase chain reaction amplification of the exon. Desoxyribonucleic acid samples of the family members and an unaffected unrelated control person were used as controls. The fetus proved to be genotypically normal.
Cserhalmi-Friedman
B P
BP
Semmelweis Orvostudományi Egyetem, Budapest Bör- és Nemikórtani Klinika.
Kárpáti
S
S
Horváth
A
A
Tóth
T
T
Tóth-Pál
E
E
Christiano
M A
MA
D001706:Biopsy; D002824:Chorionic Villi; D004247:DNA / Q000032:analysis* / Q000235:genetics; D004820:Epidermolysis Bullosa / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008854:Microscopy, Electron; D008856:Microscopy, Fluorescence; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011248:Pregnancy Complications / Q000175:diagnosis*; D011256:Pregnancy Outcome; D011263:Pregnancy Trimester, Third; D011296:Prenatal Diagnosis
D004247:DNA
DNS-alapú praenatalis diagnózis epidermolysis bullosában.